A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
About this item
Full title
Author / Creator
Hoyos-Bachiloglu, Rodrigo , Chou, Janet , Sodroski, Catherine N. , Beano, Abdallah , Bainter, Wayne , Angelova, Magdalena , Al Idrissi, Eman , Habazi, Murad K. , Alghamdi, Hamza Ali , Almanjomi, Fahd , Al Shehri, Mohamed , Elsidig, Nagi , Alaa Eldin, Morsi , Knipe, David M. , AlZahrani, Mofareh and Geha, Raif S.
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome sequencing of a patient with disseminated Mycobacterium abscessus, Streptococcus viridians bacteremia, and cytomegalovirus (CMV) viremia and identified mutations in 2 genes that regulate distinct I...
Alternative Titles
Full title
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5707159
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5707159
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI93486
